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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1871 1
1875 1
1880 1
1881 1
1892 1
1895 1
1912 1
1950 1
1958 1
1959 1
1960 3
1962 4
1963 2
1964 3
1965 5
1966 2
1967 3
1968 6
1969 9
1970 9
1971 8
1972 14
1973 9
1974 13
1975 8
1976 3
1977 2
1978 1
1979 1
1980 1
1981 3
1982 4
1984 1
1986 2
1987 2
1989 7
1990 2
1991 2
1992 1
1993 2
1994 1
1998 1
2000 2
2001 4
2002 5
2003 3
2005 2
2006 3
2007 1
2008 1
2010 1
2011 1
2012 2
2013 1
2014 1
2016 1
2017 2
2018 6
2019 5
2020 6
2021 3
2022 5
2023 13
2024 7

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212 results

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Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Management of Locally Recurrent Retroperitoneal Sarcoma in the Adult: An Updated Consensus Approach from the Transatlantic Australasian Retroperitoneal Sarcoma Working Group.
Tseng WW, Swallow CJ, Strauss DC, Bonvalot S, Rutkowski P, Ford SJ, Gonzalez RJ, Gladdy RA, Gyorki DE, Fairweather M, Lee KW, Albertsmeier M, van Houdt WJ, Fau M, Nessim C, Grignani G, Cardona K, Quagliuolo V, Grignol V, Farma JM, Pennacchioli E, Fiore M, Hayes A, Tzanis D, Skoczylas J, Almond ML, Mullinax JE, Johnston W, Snow H, Haas RL, Callegaro D, Smith MJ, Bouhadiba T, Desai A, Voss R, Sanfilippo R, Jones RL, Baldini EH, Wagner AJ, Catton CN, Stacchiotti S, Thway K, Roland CL, Raut CP, Gronchi A; Transatlantic Australasian Retroperitoneal Sarcoma Working Group. Tseng WW, et al. Among authors: snow h. Ann Surg Oncol. 2022 Nov;29(12):7335-7348. doi: 10.1245/s10434-022-11864-y. Epub 2022 Jun 29. Ann Surg Oncol. 2022. PMID: 35767103 Review.
Clinical outcomes of pediatric osteomyelitis.
Disch K, Hill DA, Snow H, Dehority W. Disch K, et al. Among authors: snow h. BMC Pediatr. 2023 Feb 3;23(1):54. doi: 10.1186/s12887-023-03863-z. BMC Pediatr. 2023. PMID: 36732705 Free PMC article.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: snow h. medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829. medRxiv. 2023. PMID: 38328047 Free PMC article. Preprint.
Environmentally sustainable surgery: A plea to act.
Snow H, Hodgson R, Hii MW, Reeves F, Proud D, Lam T, Gyomber D, Dunne B. Snow H, et al. ANZ J Surg. 2023 Nov;93(11):2562-2564. doi: 10.1111/ans.18609. Epub 2023 Jul 17. ANZ J Surg. 2023. PMID: 37458184 No abstract available.
Technical considerations for isolated limb perfusion: A consensus paper.
Hayes AJ, Coker DJ, Been L, Boecxstaens VW, Bonvalot S, De Cian F, de la Cruz-Merino L, Duarte C, Eggermont A, Farricha V, Fiore M, Grünhagen D, Grützmann R, Honoré C, Jakob J, Hocevar M, van Houdt W, Klauzner J, Kettelhack C, Märten A, Martinez-Said H, Matter M, Michot A, Niethard M, Pennacchioli E, Podleska LE, Rabago G, Rastrelli M, Reijers S, Ribeiro M, Schwarzbach M, Snow HA, Spacek M, Stoldt S, Testori A, Zoras O, Olofsson Bagge R. Hayes AJ, et al. Among authors: snow ha. Eur J Surg Oncol. 2024 Mar 6;50(6):108050. doi: 10.1016/j.ejso.2024.108050. Online ahead of print. Eur J Surg Oncol. 2024. PMID: 38498966 Review.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argili E, Le C, Sherr EH, Gleeson J, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan T, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: snow h. medRxiv [Preprint]. 2023 Oct 5:2023.10.05.23296595. doi: 10.1101/2023.10.05.23296595. medRxiv. 2023. PMID: 37873196 Free PMC article. Updated. Preprint.
Primary iliocaval leiomyosarcomas: The path beyond surgery.
Ong CJ, Smith MJ, Snow HA, Benson C, Jones RL, Hayes AJ, Strauss DC. Ong CJ, et al. Among authors: snow ha. Eur J Surg Oncol. 2020 May;46(5):893-897. doi: 10.1016/j.ejso.2020.01.034. Epub 2020 Feb 6. Eur J Surg Oncol. 2020. PMID: 32067874
212 results